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Intrathecal baclofen treatment an option in X-linked adrenoleukodystrophy
Astrid Lindgren Childrens Hosp, Dept Neuropediat, Q302, S-17176 Stockholm, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
Astrid Lindgren Childrens Hosp, Dept Neuropediat, Q302, S-17176 Stockholm, Sweden.;Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden..ORCID iD: 0000-0002-0456-8029
2018 (English)In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 22, no 1, p. 178-181Article in journal (Refereed) Published
Abstract [en]

Background: X-linked adrenoleukodystrophy (X-ALD) is a genetic peroxisomal disorder associated with tissue accumulation of very long chain fatty acids (VLCFAs). In approximately one third of affected males, this causes progressive and irreversible damage to the brain white matter. Progress is often rapid with upper motor neuron damage leading to severe spasticity and dystonia. The increased muscle tone is frequently difficult to alleviate with oral drugs. Here, we describe two patients with X-ALD who have received treatment with intrathecal baclofen pumps (ITB). Case study: Both boys had a rapidly progressive cerebral form of the disorder resulting, among other things, in escalating spasticity and dystonia causing severe pain, dramatically reducing their quality of life. Both were treated with a variety of oral medications without adequate relief. Both patients tolerated ITB surgery without complications and the positive clinical effects of treatment with ITB became clear in the following weeks and months, with significantly reduced muscle tone, less pain and better sleep. Moreover, general caretaking became easier. Conclusion: The treatment of spasticity and dystonia in these patients is difficult partly due to the relentless nature of this progressive disorder. In our two patients, ITB has been effective from both a symptomatic and palliative perspective. We recommend that such treatment be considered as an early option for increased muscle tone in boys with the cerebral form of X-ALD. (C) 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Place, publisher, year, edition, pages
Elsevier, 2018. Vol. 22, no 1, p. 178-181
Keywords [en]
Intrathecal baclofen, ITB, X-ALD, Adrenoleukodystrophy, Spasticity
National Category
Neurology Pediatrics
Identifiers
URN: urn:nbn:se:uu:diva-347656DOI: 10.1016/j.ejpn.2017.09.003ISI: 000424858100024PubMedID: 28964670OAI: oai:DiVA.org:uu-347656DiVA, id: diva2:1195654
Available from: 2018-04-06 Created: 2018-04-06 Last updated: 2018-04-06Bibliographically approved

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